APOE ε 2 is associated with white matter hyperintensity volume in CADASIL

Benno Gesierich, Christian Opherk, Jonathan Rosand, Mariya Gonik, Rainer Malik, Eric Jouvent, Dominique Hervé, Poneh Adib-Samii, Steve Bevan, Luigi Pianese, Serena Silvestri, Maria T. Dotti, Nicola De Stefano, Jeroen Van Der Grond, Elles M.J. Boon, Francesca Pescini, Natalia Rost, Leonardo Pantoni, Saskia A. Lesnik Oberstein, Antonio FedericoMichele Ragno, Hugh S. Markus, Elisabeth Tournier-Lasserve, Hugues Chabriat, Martin Dichgans, Marco Duering, Michael Ewers*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Apolipoprotein E (APOE) increases the risk for Alzheimer's disease (ε 4 allele) and cerebral amyloid angiopathy (ε 2 and ε 4), but its role in small vessel disease (SVD) is debated. Here we studied the effects of APOE on white matter hyperintensity volume (WMHV) in CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a nonamyloidogenic angiopathy and inherited early-onset form of pure SVD. Four hundred and eighty-eight subjects were recruited through a multicenter consortium. Compared with APOE ε 3/ε 3, WMHV was increased in APOE ε 2 (P = 0.02) but not APOE ε 4. The results remained significant when controlled for genome-wide genetic background variation. Our findings suggest a modifying influence of APOE ε 2 on WMHV caused by pure SVD.

Original languageEnglish
Pages (from-to)199-203
Number of pages5
JournalJournal of Cerebral Blood Flow and Metabolism
Issue number1
Publication statusPublished - 1 Jan 2016

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